I102T (p.Ile102Thr) variant of MC4R (Melanocortin receptor 4)
I102T (p.Ile102Thr) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early onset severe obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
I102T (p.Ile102Thr) variant details
- p.Ile102Thr
- rs121913559
- ClinGen CA8980942
- ClinVar RCV003402630
- ClinVar RCV006630979
- Pathogenic
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.56
- AlphaMissense 0.76
- MetaLR 0.15
- MetaSVM -0.90
- CADD 24.20
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Early onset severe obesity)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with… (PMID 15486053)